Clinical trials: Genetic Syndrome
Cystic Fibrosis
Comparison of the Airway Clearance Efficacy of Electro Flo 5000 and the G5 Flimm-Fighter in Patients With CF
It is the goal of the proposed study to compare the efficacy, as assessed primarily by sputum weight, of these two different devices (the Electroflo 500 and the G5 Flimm-Fighter) for airway clearance (AC) in CF patients with mild…
- Trial name
- NCT02423447
- Testing
- Electro-Flo Intervention, G5 Intervention
- Volunteers
- 25 people
- Sponsor
- Stanford University
Wilms Tumour
Collaborative Wilms Tumour Africa Project
Significant progress has been made in the treatment of Wilms tumor in high income countries, where survival is now around 85% - 90%.
- Trial name
- NCT01991652
- Where
- 3 sites in Cameroon, Ghana and 1 more
- Volunteers
- 400 people
- Sponsor
- Amsterdam UMC, location VUmc
Sickle Cell Disease, Beta Thalassemia
Stem Cell Transplant in Sickle Cell Disease and Thalassemia
The primary purpose of this study is to see if giving lower doses of chemotherapy (moderately ablative) will result in successful bone marrow replacement without as severe side-effects but with permanent control of the disease.
- Trial name
- NCT00408447
- Testing
- Busulfan, Fludarabine, Alemtuzumab
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- Columbia University
Cystic Fibrosis, Covid19
The Effects of Telerehabilitation on Muscle Function, Physical Activity and Sleep in Cystic Fibrosis During Pandemic
The aim of this study is to evaluate the peripheral muscle function, sleep disorders and physical activity level in children with cystic fibrosis who are physically inactive at home due to social isolation and to examine the…
- Conditions
- Cystic Fibrosis, Covid19, Social Isolation
- Trial name
- NCT04742049
- Testing
- Telerehabilitation-based, Follow-up based
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Hacettepe University
Retinal Degeneration, Retinitis Pigmentosa
Stem Cells Therapy in Degenerative Diseases of the Retina
The purpose of this study is to test the safety and effectiveness of an autologous bone marrow-derived stem/progenitor cells administered intravitreously in the subjects with degenerative diseases of the retina.
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Age Related Macular Degeneration, Stargardt Disease 1
- Trial name
- NCT03772938
- Testing
- Stem/progenitor cells transplantation
- Where
- Poland
- Volunteers
- 30 people
- Sponsor
- Pomeranian Medical University Szczecin
Haemophilia
Effectiveness of the uPatient Platform in Prophylactic Treatment in Hemophilia
Research project whose main objective is to evaluate the use of a technology platform (uPatient) to register the prophylactic treatment of patients with hemophilia treated in different Hematology and Hemotherapy services of…
- Trial name
- uPatient (NCT02581735)
- Testing
- Patients with haemophilia
- Volunteers
- 40 people
- Sponsor
- Real Fundación Victoria Eugenia
Cystic Fibrosis
Cystic Fibrosis Adherence Study
This study aims to assess the role of some factors which can influence the chest physiotherapy adherence in adult with cystic fibrosis. At first, we are going to try to consider the adherence of chest physiotherapy.
- Trial name
- KINOBS (NCT04217889)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 197 people
- Sponsor
- Hospices Civils de Lyon
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Uncontrolled Gout
Pegloticase and Methotrexate Co-administered in Participants With Uncontrolled Gout Who Previously Failed Pegloticase Monotherapy
This is a Phase 4, multicenter, open-label trial of pegloticase with methotrexate (MTX) in adult participants with uncontrolled gout who were previously treated with pegloticase without a concomitant immunomodulator and stopped…
- Trial name
- NCT04772313
- Testing
- Pegloticase, Methotrexate (MTX)
- Where
- 15 sites in United States
- Volunteers
- 11 people
- Sponsor
- Amgen
Neurofibromatosis 1
Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial
Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body.
- Trial name
- NCT04879160
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
Hormonal Responses to a Mixed Meal in People With Cystic Fibrosis
In this exploratory study, the hormonal responses to a mixed meal will be examined in people with cystic fibrosis. The aim of this study is to find correlates with impaired glucose tolerance that is associated with this…
- Trial name
- NCT06163482
- Testing
- Mixed meal
- Where
- United States
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Gout
D-0120 Safety and PK/PD, Food Effect Study in Healthy Volunteers
This initial clinical study in the US will be a randomized, double-blind, placebo-controlled, single-dose, dose-escalation, and sequential cohort study to evaluate the safety, tolerability, PK and PD of D-0120-NA in fasting…
- Trial name
- NCT03291782
- Testing
- D-0120
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- InventisBio Co., Ltd
Atrial Fibrillation, Deep Vein Thrombosis
Randomized Trial of Interventions to Improve Warfarin Adherence
The purpose of this research study is to see if a lottery which provides the opportunity to win money, a reminder system using a "Med-eMonitor", or the combination of both might be useful in helping patients to achieve better…
- Conditions
- Atrial Fibrillation, Deep Vein Thrombosis, Dilated Cardiomyopathies
- Trial name
- WIN3 (NCT00904982)
- Testing
- Financial Incentive and Med-eMonitor, 2Med-eMonitor
- Where
- 2 sites in United States
- Volunteers
- 268 people
- Sponsor
- University of Pennsylvania
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Acute Hepatic Porphyria
EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
The purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.
- Trial name
- NCT02240784
- Where
- 30 sites in United States, Australia and 18 more
- Volunteers
- 136 people
- Sponsor
- Alnylam Pharmaceuticals
Chuvash Polycythemia, Cerebrovascular Disease
Pulmonary Hypertension, Hypoxia and Sickle Cell Disease
The study will look at the risk factors for pulmonary hypertension (high blood pressure in the lungs) in children and adolescents with sickle cell anemia (SCA) and examine the role of hypoxia (oxygen shortage) in the disease.
- Conditions
- Chuvash Polycythemia, Cerebrovascular Disease, Pulmonary Hypertension, Sickle Cell Anemia
- Trial name
- NCT00495638
- Where
- 7 sites in United States, Russia
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Thalassemia Major, Osteoporosis
Denosumab vs Placebo in Patients With Thalassemia Major and Osteoporosis
This is a single-site, randomized, placebo-controlled, double blind phase 2b clinical trial. Patients with Thalassemia will participate in this study and will be treated with Denosumab or placebo.
- Trial name
- NCT02559648
- Testing
- Denosumab
- Where
- Greece
- Volunteers
- 63 people
- Sponsor
- Ersi Voskaridou
Muscular Dystrophies, Muscle Myopathies
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Background: Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known.
- Conditions
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies
- Trial name
- NCT01568658
- Where
- United States
- Volunteers
- 2,586 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Atopic Dermatitis
Texting Atopic Dermatitis Patients to Optimize Learning and EASI Scores
The purpose of this study is to determine if sending text messages with treatment reminders and facts regarding atopic dermatitis (AD) to caretakers of children with AD will have a positive effect on the disease severity.
- Trial name
- TADPOLES (NCT02779426)
- Testing
- Text messages
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Columbia University
Thyroid Eye Disease
A Study of TEPEZZA® Treatment in Participants With Thyroid Eye Disease
The main goal of this study is to learn how teprotumumab will be processed in the body (Pharmacokinetics) subcutaneously and whether it is safe and tolerable after administration into adult patients with thyroid eye disease.
- Trial name
- NCT06389578
- Testing
- Teprotumumab
- Where
- 3 sites in United States
- Volunteers
- 16 people
- Sponsor
- Amgen
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